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在两种不同的瘤组织中,INDEL的不稳定性及其法医意义

İpek Gürel^1,2, Faruk Aşıcıoğlu³, Gökhan Ersoy⁴

¹Department of Science, Institute of Forensic Sciences and Legal Medicine, İstanbul University- Cerrahpaşa, İstanbul, Türkiye.

Forensic science, medicine, and pathology

|April 3, 2024

概括

恶性瘤DNA可以用于法医分析,但遗传不稳定性会影响结果. 插入/删除 (InDel) 标记在甲状腺瘤中的不稳定性低于乳腺瘤,这使得它们对法医识别有潜在的用处.

科学领域:

法医遗传学法医遗传学
分子生物学分子生物学
癌症研究癌症研究

背景情况:

法医DNA分析依赖于短串重复 (STRs),但瘤遗传不稳定性可能导致错误.
插入/删除多态度 (InDels) 对STR和单核酸多态度 (SNP) 在法医应用中具有优势.
有限的研究存在于瘤组织中的InDel不稳定性.

研究的目的:

为了评估InDel在甲固定型氨酸嵌入 (FFPE) 乳腺和甲状腺瘤组织中的不稳定性.
评估FFPE瘤样本对于法医遗传识别的适用性.

主要方法:

在47个FFPE瘤样本 (26个乳腺,21个甲状腺) 中分析了36plex InDel面板.
量化突变变化,包括失去了异性.

主要成果:

在80.76%的乳腺癌病例中观察到高的InDel不稳定性.
在甲状腺癌病例中观察到较低的不稳定性 (28.57%),在1-2位点发生突变.
在这两种组织类型中,异构性损失是最常见的变化.

结论:

由于较低的InDel不稳定性,FFPE甲状腺瘤组织显示出法医遗传识别的潜力.
对于法医使用,FFPE乳腺癌组织需要仔细检查.
InDel的分析对法医识别有希望,但对潜在的个人资料差异的认识至关重要.
将InDels与SNP和微型类型结合起来可以提高识别能力.

关键词:

法医遗传学法医遗传学标识识别识别识别在英德尔斯.不稳定不稳定不稳定.在STR中,STR是STR.瘤组织瘤组织

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